Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP
Variant:p.N57D

AOPEP

411 papers

RefSeq Summary

This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a prote...

Pfam Domains

Peptidase_M1aa 423–651UCSCPeptidase family M1 domain
Leuk-A4-hydro_Caa 706–818UCSCLeukotriene A4 hydrolase, C-terminal

Gene Aliases

HGNC Name

aminopeptidase O (putative)

HGNC Previous Symbol

C9orf3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001193329.3
p.N57D
c.169A>G
Surrounding Variants
1 paper
NM_001193329.3
p.K54E
c.160A>G
1 paper
NM_001193329.3
p.F53F
c.159C>T
1 paper
NM_001193329.3
p.F53S
c.158T>C
1 paper
NM_001193329.3
p.L47L
c.141C>T
1 paper
NM_001193329.3
p.L47P
c.140T>C
1 paper
NM_001193329.3
p.L47R
c.140T>G
1 paper
NM_001193329.3
p.S68*
c.203C>G
1 paper
NM_001193329.3
p.L45H
c.134T>A
1 paper
NM_001193329.3
p.T42S
c.125C>G
1 paper
NM_001193329.3
p.T42A
c.124A>G
1 paper
NM_001193329.3
p.T42S
c.124A>T
4 papers
NM_001193329.3
p.G41E
c.122G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."